Disorders of amino-acid transport

E4_AMINOTRANSPORT

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 E72.0
  • Hospital discharge: ICD-9 2700
  • Hospital discharge: ICD-8 270[1-3]
  • Cause of death: ICD-10 E72.0
  • Cause of death: ICD-9 2700
  • Cause of death: ICD-8 270[1-3]

2 out of 7 registries used, show all original rules.

56

4. Check minimum number of events

None

56

5. Include endpoints

None

56

6. Filter based on genotype QC (FinnGen only)

53

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 E72
Name in latin Perturbationes transportationis acidorum aminoicorum

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 504 254 247
Only index persons 411 212 199
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 46.24 47.45 44.84
Only index persons 47.91 49.69 46.01

-FinnGen-

Key figures

All Female Male
Number of individuals 53 22 31
Unadjusted period prevalence (%) 0.01 0.01 0.02
Median age at first event (years) 50.58 40.59 57.66

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

No data

-FinnGen-

Cumulative Incidence Function

No data

Mortality – FinRegistry

Association

Association between endpoint E4_AMINOTRANSPORT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_AMINOTRANSPORT.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: E4_AMINOTRANSPORT – Disorders of amino-acid transport

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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